Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01759:Marveld3'

153521

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Marveld3

Ensembl Gene

ENSMUSG00000001672

Gene Name

MARVEL (membrane-associating) domain containing 3

Synonyms

Mrvldc3, MARVD3, 1810006A16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

110674546-110688835 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110674719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 366 (S366G)

Ref Sequence

ENSEMBL: ENSMUSP00000001722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001722] [ENSMUST00000034175] [ENSMUST00000051430] [ENSMUST00000179721]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001722
AA Change: S366G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: S366G

Domain	Start	End	E-Value	Type
low complexity region	7	33	N/A	INTRINSIC
low complexity region	43	74	N/A	INTRINSIC
low complexity region	104	116	N/A	INTRINSIC
transmembrane domain	181	203	N/A	INTRINSIC
transmembrane domain	239	261	N/A	INTRINSIC
transmembrane domain	274	296	N/A	INTRINSIC
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000034175

SMART Domains

Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Blast:PH	148	247	3e-61	BLAST
LRR	295	314	1.12e2	SMART
Pfam:LRR_7	319	335	3.5e-2	PFAM
LRR	341	363	2.82e0	SMART
LRR	364	387	9.75e0	SMART
LRR	456	479	2.68e1	SMART
LRR	498	517	1.35e1	SMART
LRR	521	540	5.59e1	SMART
LRR	544	563	2.79e1	SMART
LRR	569	589	1.62e1	SMART
LRR	590	609	1.67e1	SMART
LRR	616	641	1.33e2	SMART
LRR	640	659	1.4e1	SMART
LRR_TYP	664	687	6.78e-3	SMART
LRR	709	733	2.15e2	SMART
PP2Cc	772	1028	2.98e-30	SMART
low complexity region	1061	1095	N/A	INTRINSIC
Blast:PP2Cc	1109	1175	8e-15	BLAST
low complexity region	1297	1315	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051430

SMART Domains

Protein: ENSMUSP00000052309
Gene: ENSMUSG00000001672

Domain	Start	End	E-Value	Type
low complexity region	7	33	N/A	INTRINSIC
low complexity region	43	74	N/A	INTRINSIC
low complexity region	104	116	N/A	INTRINSIC
Pfam:MARVEL	168	355	3.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179721

SMART Domains

Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
low complexity region	75	92	N/A	INTRINSIC
Blast:PH	183	282	4e-61	BLAST
LRR	330	349	1.12e2	SMART
LRR	376	398	2.82e0	SMART
LRR	399	422	9.75e0	SMART
LRR	491	514	2.68e1	SMART
LRR	533	552	1.35e1	SMART
LRR	556	575	5.59e1	SMART
LRR	579	598	2.79e1	SMART
LRR	604	624	1.62e1	SMART
LRR	625	644	1.67e1	SMART
LRR	651	676	1.33e2	SMART
LRR	675	694	1.4e1	SMART
LRR_TYP	699	722	6.78e-3	SMART
LRR	744	768	2.15e2	SMART
PP2Cc	807	1063	2.98e-30	SMART
low complexity region	1096	1130	N/A	INTRINSIC
Blast:PP2Cc	1144	1210	8e-15	BLAST
low complexity region	1332	1350	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,726,625 (GRCm39)	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,131,139 (GRCm39)	I277N	probably damaging	Het
Ap1b1	C	T	11: 4,969,433 (GRCm39)	T263I	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335 (GRCm39)	V313L	probably damaging	Het
Car2	G	A	3: 14,960,688 (GRCm39)		probably null	Het
Cdh17	T	A	4: 11,771,262 (GRCm39)		probably benign	Het
Cep295	A	G	9: 15,234,855 (GRCm39)		probably null	Het
Cep97	T	C	16: 55,750,936 (GRCm39)	K27E	probably damaging	Het
Cops5	A	T	1: 10,097,474 (GRCm39)	N258K	probably damaging	Het
Dchs1	T	A	7: 105,404,509 (GRCm39)	T2678S	probably benign	Het
Dnah10	T	A	5: 124,832,850 (GRCm39)	F861Y	probably benign	Het
Dock10	T	C	1: 80,503,990 (GRCm39)	E1777G	probably damaging	Het
Dock5	G	A	14: 68,118,708 (GRCm39)	Q23*	probably null	Het
Ermp1	T	C	19: 29,593,236 (GRCm39)	K752R	probably benign	Het
Fhip1a	A	C	3: 85,595,754 (GRCm39)	I377S	probably damaging	Het
Gjd2	T	A	2: 113,841,587 (GRCm39)	I297L	probably benign	Het
Gm1123	T	C	9: 98,905,307 (GRCm39)	M68V	probably benign	Het
Gm28372	C	T	2: 130,248,818 (GRCm39)	R59W	probably damaging	Het
Gm9912	A	C	3: 148,891,074 (GRCm39)	F20V	unknown	Het
Gpat2	T	C	2: 127,272,816 (GRCm39)	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,203,784 (GRCm39)	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,568,269 (GRCm39)	D40V	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Jakmip3	A	T	7: 138,622,633 (GRCm39)	Q331L	probably damaging	Het
Kif5b	A	G	18: 6,225,647 (GRCm39)	V179A	probably damaging	Het
Kif5b	A	T	18: 6,211,019 (GRCm39)		probably benign	Het
Krt14	A	T	11: 100,095,242 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,207,798 (GRCm39)	F307S	unknown	Het
Laptm4a	T	C	12: 8,984,687 (GRCm39)		probably benign	Het
Mga	C	A	2: 119,781,676 (GRCm39)	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,569,292 (GRCm39)	N54S	probably benign	Het
Mras	T	C	9: 99,293,548 (GRCm39)	I31V	probably damaging	Het
Myh1	A	G	11: 67,110,732 (GRCm39)	D1518G	probably damaging	Het
Myoz2	A	T	3: 122,807,430 (GRCm39)	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,167,438 (GRCm39)	W273L	probably benign	Het
Nol9	C	T	4: 152,130,500 (GRCm39)		probably benign	Het
Nrxn2	T	C	19: 6,559,959 (GRCm39)	V1206A	probably damaging	Het
Or2ag1b	T	C	7: 106,288,540 (GRCm39)	T133A	probably benign	Het
Or5k16	A	T	16: 58,736,291 (GRCm39)	F238I	probably damaging	Het
Or6c5	T	A	10: 129,074,941 (GRCm39)	F308I	probably benign	Het
Or6f2	T	C	7: 139,756,447 (GRCm39)	I138T	probably benign	Het
Or8g2b	T	A	9: 39,750,907 (GRCm39)	M59K	probably damaging	Het
Pappa	T	C	4: 65,123,395 (GRCm39)		probably null	Het
Pfkl	A	G	10: 77,836,565 (GRCm39)	S151P	probably damaging	Het
Pgbd5	C	T	8: 125,111,118 (GRCm39)	G191D	probably damaging	Het
Pikfyve	T	C	1: 65,292,512 (GRCm39)	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,082,241 (GRCm39)	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,003,502 (GRCm39)	V386L	probably benign	Het
S1pr3	G	A	13: 51,573,548 (GRCm39)	R243Q	probably damaging	Het
Slc44a4	A	G	17: 35,140,219 (GRCm39)	D208G	probably benign	Het
Slc6a4	T	C	11: 76,904,114 (GRCm39)	S190P	probably damaging	Het
Snapc5	A	T	9: 64,087,779 (GRCm39)		probably null	Het
Tbc1d14	C	A	5: 36,728,913 (GRCm39)	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,897,826 (GRCm39)		probably benign	Het
Tmem219	G	A	7: 126,496,310 (GRCm39)	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951 (GRCm38)	R51G	probably null	Het
Ugp2	T	C	11: 21,303,447 (GRCm39)	K53E	probably benign	Het
Vmn1r214	T	C	13: 23,218,662 (GRCm39)	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,284,330 (GRCm39)	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,935 (GRCm39)	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,741 (GRCm39)	D679G	probably damaging	Het
Zhx3	T	C	2: 160,622,634 (GRCm39)	N511S	probably damaging	Het

Other mutations in Marveld3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Marveld3	APN	8	110,688,596 (GRCm39)	missense	possibly damaging	0.81
IGL01341:Marveld3	APN	8	110,675,049 (GRCm39)	missense	possibly damaging	0.94
IGL01415:Marveld3	APN	8	110,688,705 (GRCm39)	missense	possibly damaging	0.92
IGL02012:Marveld3	APN	8	110,674,764 (GRCm39)	missense	probably damaging	0.99
R0732:Marveld3	UTSW	8	110,675,115 (GRCm39)	missense	probably damaging	0.99
R1500:Marveld3	UTSW	8	110,675,174 (GRCm39)	splice site	probably null
R1955:Marveld3	UTSW	8	110,686,380 (GRCm39)	missense	probably benign	0.08
R2146:Marveld3	UTSW	8	110,686,434 (GRCm39)	missense	probably benign	0.00
R2172:Marveld3	UTSW	8	110,688,478 (GRCm39)	missense	probably benign	0.22
R4843:Marveld3	UTSW	8	110,688,702 (GRCm39)	missense	possibly damaging	0.66
R4925:Marveld3	UTSW	8	110,674,943 (GRCm39)	missense	probably benign	0.00
R5542:Marveld3	UTSW	8	110,675,249 (GRCm39)	missense	probably benign	0.03
R6003:Marveld3	UTSW	8	110,680,960 (GRCm39)	missense	probably damaging	1.00
R6733:Marveld3	UTSW	8	110,688,681 (GRCm39)	missense	possibly damaging	0.90
R6786:Marveld3	UTSW	8	110,674,732 (GRCm39)	missense	probably benign	0.13
R7156:Marveld3	UTSW	8	110,674,820 (GRCm39)	missense	probably damaging	1.00
R7194:Marveld3	UTSW	8	110,686,477 (GRCm39)	splice site	probably null
R7429:Marveld3	UTSW	8	110,675,100 (GRCm39)	missense	possibly damaging	0.77
R7430:Marveld3	UTSW	8	110,675,100 (GRCm39)	missense	possibly damaging	0.77
R7810:Marveld3	UTSW	8	110,681,266 (GRCm39)	missense	probably damaging	0.99
R8421:Marveld3	UTSW	8	110,675,279 (GRCm39)	missense	probably benign	0.07
R8460:Marveld3	UTSW	8	110,681,040 (GRCm39)	missense	probably benign	0.16
R8478:Marveld3	UTSW	8	110,688,600 (GRCm39)	missense	probably damaging	1.00
R8739:Marveld3	UTSW	8	110,688,609 (GRCm39)	missense	possibly damaging	0.82
R8966:Marveld3	UTSW	8	110,675,019 (GRCm39)	missense	possibly damaging	0.90
R9334:Marveld3	UTSW	8	110,675,036 (GRCm39)	missense	probably damaging	0.99
R9465:Marveld3	UTSW	8	110,688,525 (GRCm39)	missense	possibly damaging	0.66
R9763:Marveld3	UTSW	8	110,688,375 (GRCm39)	missense	probably benign	0.38
Z1088:Marveld3	UTSW	8	110,674,695 (GRCm39)	missense	possibly damaging	0.94

Posted On

2014-02-04